PIK3CA c.3130_3131insTCT ;(p.N1044delinsIY)

Variant ID: 3-178952075-A-ATCT

NM_006218.2(PIK3CA):c.3130_3131insTCT;(p.N1044delinsIY)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

European Journal Of Endocrinology
Leiter, Sarah M SM; Parker, Victoria E R VER; Welters, Alena A; Knox, Rachel R; Rocha, Nuno N; Clark, Graeme G; Payne, Felicity F; Lotta, Luca L; Harris, Julie J; Guerrero-Fernández, Julio J; González-Casado, Isabel I; García-Miñaur, Sixto S; Gordo, Gema G; Wareham, Nick N; Martínez-Glez, Víctor V; Allison, Michael M; O'Rahilly, Stephen S; Barroso, Inês I; Meissner, Thomas T; Davies, Susan S; Hussain, Khalid K; Temple, Karen K; Barreda-Bonis, Ana-Coral AC; Kummer, Sebastian S; Semple, Robert K RK
Publication Date: 2017-08

Variant appearance in text: PIK3CA: N1044delinsIY
PubMed Link: 28566443
Variant Present in the following documents:
  • Main text
  • eje-177-175.pdf
View BVdb publication page